Canonical Allele Identifier: PA916037391
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 636
ClinVar RCV Id: RCV000000668 RCV000078516 RCV002251847 RCV003398402 RCV004018528
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ile65Thr
CA251544
NM_001354304.2:c.194T>C